First successful preimplantation genetic diagnosis in Singapore - Avoidance of β-thalassaemia major

Abstract

Introduction: We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore. Clinical Picture: A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD. Treatment: Two cycles of PGD were performed on the couple. β-thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were selected for transfer. Outcome: A singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype. Conclusions: This case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting β-thalassaemia major.